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Congenital Hyperinsulinism Genetic Testing

Congenital Hyperinsulinism

Congenital Hyperinsulinism

General Discussion Congenital hyperinsulinism (HI) is the most frequent cause of severe, persistent hypoglycemia in newborn babies, infants, and children. In most countries it occurs in approximately 1/25,000 to 1/50,000 births. About 60% of babies with HI are diagnosed during the first month of life. An additional 30% will be diagnosed later in the first year and the remainder after that. With early treatment and aggressive prevention of hypoglycemia, brain damage can be prevented. However, brain damage can occur in children with HI if the condition is not recognized or if treatment is ineffective in the prevention of hypoglycemia. Insulin is the most important hormone for controlling the concentration of glucose in the blood. As food is eaten, blood glucose rises and the pancreas secretes insulin to keep blood glucose in the normal range. Insulin acts by driving glucose into the cells of the body. This action of insulin maintains blood glucose levels and stores glucose as glycogen in the liver. Once feeding is completed and glucose levels fall, insulin secretion is turned off, allowing the stores of glucose in glycogen to be released into the bloodstream to keep blood glucose normal. In addition, with the switching off of insulin secretion, protein and fat stores become accessible and can be used instead of glucose as sources of fuel. In this manner, whether one eats or is fasting blood glucose levels remain in the normal range and the body has access to energy at all times. This close regulation of blood glucose and insulin secretion does not occur normally in people who have HI. The beta cells in the pancreas, which are responsible for insulin secretion, are blind to the blood glucose level and secrete insulin regardless of the blood glucose concentration. As a resu Continue reading >>

Congenital Hyperinsulinism: Current Trends In Diagnosis And Therapy

Congenital Hyperinsulinism: Current Trends In Diagnosis And Therapy

Orphanet Journal of Rare Diseases20116:63 Arnoux et al; licensee BioMed Central Ltd.2011 Congenital hyperinsulinism (HI) is an inappropriate insulin secretion by the pancreatic -cells secondary to various genetic disorders. The incidence is estimated at 1/50, 000 live births, but it may be as high as 1/2, 500 in countries with substantial consanguinity. Recurrent episodes of hyperinsulinemic hypoglycemia may expose to high risk of brain damage. Hypoglycemias are diagnosed because of seizures, a faint, or any other neurological symptom, in the neonatal period or later, usually within the first two years of life. After the neonatal period, the patient can present the typical clinical features of a hypoglycemia: pallor, sweat and tachycardia. HI is a heterogeneous disorder with two main clinically indistinguishable histopathological lesions: diffuse and focal. Atypical lesions are under characterization. Recessive ABCC8 mutations (encoding SUR1, subunit of a potassium channel) and, more rarely, recessive KCNJ11 (encoding Kir6.2, subunit of the same potassium channel) mutations, are responsible for most severe diazoxide-unresponsive HI. Focal HI, also diazoxide-unresponsive, is due to the combination of a paternally-inherited ABCC8 or KCNJ11 mutation and a paternal isodisomy of the 11p15 region, which is specific to the islets cells within the focal lesion. Genetics and 18F-fluoro-L-DOPA positron emission tomography (PET) help to diagnose diffuse or focal forms of HI. Hypoglycemias must be rapidly and intensively treated to prevent severe and irreversible brain damage. This includes a glucose load and/or a glucagon injection, at the time of hypoglycemia, to correct it. Then a treatment to prevent the recurrence of hypoglycemia must be set, which may include frequent and gl Continue reading >>

[full Text] Managing Congenital Hyperinsulinism: Improving Outcomes With A Multidi | Rred

[full Text] Managing Congenital Hyperinsulinism: Improving Outcomes With A Multidi | Rred

Division of Endocrinology and Diabetes, The Childrens Hospital of Philadelphia, Philadelphia, PA, USA Abstract: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in pediatric patients and is associated with significant risk of hypoglycemic seizures and developmental delays. CHI results from mutations in at least nine genes that play a role in regulating beta-cell insulin secretion. Thus, patients with CHI have dysregulated insulin secretion that is unresponsive to blood glucose level. Each different genetic etiology of CHI is associated with particular clinical characteristics that affect management decisions. Given the broad phenotypic spectrum and relatively rare prevalence of CHI, it is important that patients with CHI be evaluated by clinicians experienced with CHI and the multiple subspecialty services that are necessary for the management of the disorder. In this review, we summarize the pathophysiology and genetic causes of CHI and then focus primarily on the most common genetic cause (mutations in the ATP-gated potassium [KATP] channel) for further discussion of diagnosis, medical and surgical management, and potential acute and chronic complications. We provide insight from relevant published studies and reports, in addition to anecdotal information from our centers clinical experience in caring for over 400 patients with CHI. Careful assessment of each patients individual pathophysiology is necessary to determine the appropriate treatment regimen, and continued close follow-up and monitoring of disease- and treatment-related complications are essential. Although significant improvements have been made in the past several years with regard to diagnosis and management, given the continued high morbidity rate in patients with C Continue reading >>

Hyperinsulinism / Clinical Genetics / Exeter Clinical Laboratory International

Hyperinsulinism / Clinical Genetics / Exeter Clinical Laboratory International

Hyperinsulinism is a heterogeneous disorder both clinically and in terms of genetic aetiology. Congenital hyperinsulinaemic hypoglycaemia is the most frequent cause of hyperinsulinism in early infancy and it shows both recessive and dominant modes of inheritance. Age of onset is variable and the hypoglycaemia ranges from asymptomatic through to medically unresponsive hypoglycaemia. Hyperinsulinism due to inactivatingvariants in the ABCC8 and KCNJ11 genes Disease-causing variantsin KCNJ11 and ABCC8 are the commonest cause of congenital hyperinsulinism. Diffuse hyperinsulinism is most often caused by autosomal recessive inheritance withvariants being inherited from both unaffected parents although dominant inheritance has also been reported. Focal hyperinsulinism arises when an infant inherits a paternal ABCC8 or KCNJ11variants and there is loss of the maternal allele within the focal lesion. It is important to differentiate between these two types as 18F-DOPA PET-CT scanning is recommended for patients with a paternally inheritedvariant to locate a possible focal lesion within the pancreas as lesionectomy or partial pancreatectomy can cure focal hyperinsulinism. Loss of heterozygosity can be detected using microsatellite markers within the chromosome 11p15 region. Diffuse hyperinsulinism is treated medically where possible with sub-total pancreatectomy only as a last resort since 75% of patients then develop iatrogenic diabetes. First line urgent testing for ABCC8 and KCNJ11 genevariants is available with a result issued in 1-2 weeks, followed by a 10gene next generation sequencing test if no variant is found. Hyperinsulinism-Hyperammonaemia Syndrome due to dominantvariants in the GLUD1 gene Hyperinsulinism-hyperammonemia syndrome is caused by heterozygous gain-of-funct Continue reading >>

Clinical And Genetic Characterization Of Congenital Hyperinsulinism In Spain

Clinical And Genetic Characterization Of Congenital Hyperinsulinism In Spain

Clinical and genetic characterization of congenital hyperinsulinism in Spain on behalf of the Spanish Congenital Hyperinsulinism Group 1Endocrinology and Diabetes Research Group, BioCruces Health Research Institute, Cruces University Hospital, CIBERDEM, CIBERER, UPV-EHU, Barakaldo, Spain 2Pediatric Endocrinology Section, Basurto University Hospital, BioCruces Health Research Institute, UPV/EHU, Bilbao, Spain 3Pediatric Endocrinology Section, Cruces University Hospital, BioCruces Health Research Institute, CIBERDEM, CIBERER, UPV/EHU, Barakaldo, Spain Correspondence should be addressed to L Castao; Email: lcastano{at}osakidetza.net Context Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous disease characterized by severe hypoglycemia caused by inappropriate insulin secretion by pancreatic -cells. Objective To characterize clinically and genetically CHI patients in Spain. Design and methods We included 50 patients with CHI from Spain. Clinical information was provided by the referring clinicians. Mutational analysis was carried out for KCNJ11, ABCC8, and GCK genes. The GLUD1, HNF4A, HNF1A, UCP2, and HADH genes were sequenced depending on the clinical phenotype. Results We identified the genetic etiology in 28 of the 50 CHI patients tested: 21 had a mutation in KATP channel genes (42%), three in GLUD1 (6%), and four in GCK (8%). Most mutations were found in ABCC8 (20/50). Half of these patients (10/20) were homozygous or compound heterozygous, with nine being unresponsive to diazoxide treatment. The other half had heterozygous mutations in ABCC8, six of them being unresponsive to diazoxide treatment and four being responsive to diazoxide treatment. We identified 22 different mutations in the KATP channel genes, of which ten were novel. Notably, Continue reading >>

Orphanet: Congenital Isolated Hyperinsulinism

Orphanet: Congenital Isolated Hyperinsulinism

Prevalence is estimated at 1/50,000 live births, but it may be as high as 1/2,500 in communities with substantial consanguinity. CHI onset varies from birth through early adulthood. Neonatal onset is the most frequent; newborns, often macrosomic present with poor feeding, intolerance to fasting and persistent hypoglycemia. Hypoglycemic episodes range from mild (lethargy, hypotonia and irritability) to severe and potentially fatal episodes (apnea, seizures or coma) that lead to neurologic sequelae. In late onset CHI, patients generally present with features of hypoglycemia (pallor, profuse sweating and tachycardia). In some forms hypoglycemia may be triggered by anaerobic exercise (exercise-induced hyperinsulinism) or protein rich meals (hyperinsulinism-hyperammonemia syndrome and hyperinsulinism due to 3-hydroxylacyl-CoA dehydrogenase deficiency, see these terms). Nine genes are associated to CHI among which mutations in the genes encoding the ATP-sensitive potassium channel in pancreatic beta cells (ABCC8, KCNJ11) represent the most common defect. Persistent hypoglycemic episodes (that require intravenous glucose infusion rates of >8 mg/kg/min to maintain normoglycemia) and responsiveness to glucagon are highly indicative of CHI. Detectable serum insulin/C-peptide, low ketone bodies, suppressed fatty acids and suppressed branch chain-amino acids during hypoglycemic episodes (glycemia of <3 mmol/l) all indicate CHI. Later onset CHI may require provocative testing (e.g. oral glucose or leucine loading; formal exercise testing). Cases unresponsive to diazoxide should be classified in to focal and diffuse HI by genetic testing for (ABCC8/ KCNJ11mutations and imaging, particularly DOPA-Positron emission tomography (PET). Differential diagnosis includes transient hyperinsul Continue reading >>

Congenital Hyperinsulinism

Congenital Hyperinsulinism

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved. ClinicalTrials.gov lists trials that are related to Congenital hyperinsulinism. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies. Please note:Studies listed on theClinicalTrials.govwebsite are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study. These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Genetics Home Reference (GHR) contains information on Congenital hyperinsulinism. This website is maintained by the National Library of Medicine. GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free. The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarchs tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is f Continue reading >>

Athena Diagnostics - Congenital Hyperinsulinism Evaluation

Athena Diagnostics - Congenital Hyperinsulinism Evaluation

This test requires physician attestation that patient consent has been received Whole blood samples should be submitted for proband and both parents, whenever possible (for more information, please call Athena's genetic counselor) Detects sequence variants (including point sequence variants, deletions, insertions, and rearrangements) in the coding sequences of the ABCC8, KCNJ11, GCK, and GLUD1 genes in patients with congenital Hyperinsulinemic hypoglycemia (CHI). Patients exhibit severe, persistent hypoglycemia in newborns or infants; family history of CHI. The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed. Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form. Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable 8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum) Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood Continue reading >>

Congenital Hyperinsulinism - Genetics Home Reference

Congenital Hyperinsulinism - Genetics Home Reference

What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? Congenital hyperinsulinism affects approximately 1 in 50,000 newborns. This condition is more common in certain populations, affecting up to 1 in 2,500 newborns. What information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ethnic groups? Congenital hyperinsulinism is caused by mutations in genes that regulate the release (secretion) of insulin, which is produced by beta cells in the . Insulin clears excess sugar (in the form of glucose) from the bloodstream by passing glucose into cells to be used as energy. congenital hyperinsulinism lead to over-secretion of insulin from beta cells. Normally, insulin is secreted in response to the amount of glucose in the bloodstream: when glucose levels rise, so does Congenital hyperinsulinism can have different inheritance patterns, usually depending on the form of the condition. At least two forms of the condition have been identified. The most common form is the diffuse form, which occurs when all of the beta cells in the pancreas secrete too much insulin. The focal form of congenital hyperinsulinism occurs when only some of the beta cells over-secrete insulin. congenital hyperinsulinism is inherited in an , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Less frequently, the diffuse form is inherited in an , which means one copy of the altered gene in each cell is sufficient to cause the disorder. congenital hyperinsulinism is more complex. For most genes, both copies are t Continue reading >>

Perspective On The Genetics And Diagnosis Of Congenital Hyperinsulinism Disorders

Perspective On The Genetics And Diagnosis Of Congenital Hyperinsulinism Disorders

Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders Division of Endocrinology, The Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104 Address all correspondence and requests for reprints to: Charles A. Stanley, MD, Division of Endocrinology, The Children's Hospital of Philadelphia, 34th Street & Civic Center Boulevard, Philadelphia, PA 19104. Search for other works by this author on: The Journal of Clinical Endocrinology & Metabolism, Volume 101, Issue 3, 1 March 2016, Pages 815826, Charles A. Stanley; Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders, The Journal of Clinical Endocrinology & Metabolism, Volume 101, Issue 3, 1 March 2016, Pages 815826, Congenital hyperinsulinism (HI) is the most common cause of hypoglycemia in children. The risk of permanent brain injury in infants with HI continues to be as high as 2550% due to delays in diagnosis and inadequate treatment. Congenital HI has been described since the birth of the JCEM under various terms, including idiopathic hypoglycemia of infancy, leucine-sensitive hypoglycemia, or nesidioblastosis. In the past 20 years, it has become apparent that HI is caused by genetic defects in the pathways that regulate pancreatic -cell insulin secretion. There are now 11 genes associated with monogenic forms of HI (ABCC8, KCNJ11, GLUD1, GCK, HADH1, UCP2, MCT1, HNF4A, HNF1A, HK1, PGM1), as well as several syndromic genetic forms of HI (eg, Beckwith-Wiedemann, Kabuki, and Turner syndromes). HI is also the cause of hypoglycemia in transitional neonatal hypoglycemia and in persistent hypoglycemia in various groups of high-risk neonates (such as birth asphyxia, small for g Continue reading >>

Genetic Testing | Hyperinsulinism Genes

Genetic Testing | Hyperinsulinism Genes

Weprovide genetic testing for patients diagnosed with hyperinsulinaemic hypoglycaemia. First line testing includes Sanger sequencing of the ABCC8 and KCNJ11 genes with a result issued within 1-2 weeks for newly diagnosed or medically unresponsive patients. Testing of all known hyperinsulinism genes is available via targeted next generation sequencing analysis, this can be undertaken either as a first line test for those who are responsive to treatment or as part of cascade testing once mutations in the ABCC8 and KCNJ11 genes have been excluded by Sanger sequencing. A list of the genes captured on this panel can be found here . Routine diagnostic genetic testing is providedby the Exeter Molecular Genetics laboratory. Further information regarding costs and sample requirements can be found on the Exeter Diagnostic Laboratory wesbite . Research funded testing is possible for individuals without means tofund the analysis, please contact [email protected] to discuss individual cases. Prenatal testing may bepossible for some families with a history of congenital hyperinsulinism. Please contact Dr Jayne Houghton ( [email protected] ) to discuss individual cases. Weare seeking to recruit patients with congenital hyperinsulinism of unknown cause for gene discovery studies. Using Medical Research Council and Wellcome Trust/Royal Society funds, next-generation sequencing will be employed to analyse the genome of individuals with persistent hyperinsulinism where mutations in the known genes have been excluded. Patients with hyperinsulinaemic hypoglycaemia that has persisted for 6months are eligible to enrol in this study. A detailed clinical history along with samples from the affected individual, both parents and affected/unaffected siblings arerequired. Further informa Continue reading >>

Fulgent Genetics - Leader In Next Generation Sequencing

Fulgent Genetics - Leader In Next Generation Sequencing

ABCC8, AKT2, AKT3, GCK, GLUD1, HADH, HK1, HNF1A, HNF4A, INS, INSR, KCNJ11, PDX1, PGM1, SLC16A1, UCP2 ( 16 genes ) Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in TE buffer) or Buccal Swab or Saliva (kits available upon request) All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, Del/Dup analysis is designed to identify deletions or duplications which are two or more contiguous exons in size. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alternations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations. Continue reading >>

Congenital Hyperinsulinism Sequencing Panel - Preventiongenetics

Congenital Hyperinsulinism Sequencing Panel - Preventiongenetics

Congenital Hyperinsulinism Sequencing Panel We are happy to accommodate requests for single genes or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered on our PGxome Custom Panel. Parental targeted testing for all probands with uncertain, likely pathogenic or pathogenic variants in the ABCC8 and KCNJ11 genes are free of charge. For ordering targeted known variants, please proceed to our Targeted Variants landing page. The great majority oftests are completed within 28 days. In a cohort of 417 CHI patients studied at the Hyperinsulinism Center in The Childrens Hospital of Philadelphia (CHOP) (Snider et al. 2013), all nine genes were tested. Mutations were identified in 91% (272 of 298) of diazoxide-unresponsive probands (ABCC8, KCNJ11, and GCK), and in 47% (56 of 118) of diazoxide-responsive probands (ABCC8, KCNJ11, GLUD1, HADH, UCP2, HNF4A, and HNF1A). In another cohort of 300 CHI patients studied in United Kingdom (Kapoor et al. 2013), mutations were identified in 45.3% of patients (136/300) in eight tested genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A and HNF1A).KATP (ABCC8 and KCNJ11) mutations were the most common genetic cause identified (109/300, 36.3%). Mutations in ABCC8/KCNJ11 were identified in 92 (87.6%) diazoxide-unresponsive patients (n=105). Among the diazoxide-responsive patients (n=183), mutations were identified in 41 patients (22.4%), including mutations in ABCC8/KCNJ11 (15), HNF4A (7), GLUD1 (16) and HADH (3). The great majority oftests are completed within 28 days. Clinical sensitivity for gross deletions and duplications in the HADH gene cannot be predicted as few patients have been repor Continue reading >>

Genetic Testing - Congenital Hyperinsulinism (congenital Hyperinsulinism) - Genes Abcc8 And Kcnj11.

Genetic Testing - Congenital Hyperinsulinism (congenital Hyperinsulinism) - Genes Abcc8 And Kcnj11.

Congenital hyperinsulinism (Congenital hyperinsulinism) - Genes ABCC8 and KCNJ11. Congenital hyperinsulinemia is a disorder that causes individuals present abnormally high levels of insulin. People with this disease have frequent episodes of hypoglycaemia. In infants and young children, these episodes are characterized by lethargy, irritability and difficulty feeding. Repeated episodes of hypoglycemia increase the risk of serious complications such as respiratory distress, seizures, mental retardation, vision loss, brain damage and coma. The severity of the disease varies widely among affected individuals, even among members of the same family. About 60% of newborns with this disorder have a hypoglycemic episode during the first month of life. Other affected children develop hypoglycemia in early childhood. Unlike typical episodes of hypoglycemia, which occur more frequently after fasting or after exercise, episodes of hypoglycemia in people with the disease can also occur after eating. Congenital hyperinsulinemia is due to mutations in genes that regulate insulin secretion. Mutations in ABCC8, located on the short arm of chromosome 11 (11p15.1), are the most common known cause of disease and represents approximately 40% of cases. Less frequently, the disease is due to mutations in KCNJ11 gene, located on the short arm of chromosome 11 (11p15.1), which represent only a small percentage of all cases. In about half of people with congenital hyperinsulinism, the cause is unknown. KCNJ11 and ABCC8, encoding genes channel subunits ATP - sensitive potassium (K ATP), found through cell membranes in the beta cells of the pancreas. Beta cells secrete insulin, which controls the amount of glucose that goes from the bloodstream into cells to be used as energy. The K-ATP channel c Continue reading >>

Comprehensive Congenital Hyperinsulinism Panel

Comprehensive Congenital Hyperinsulinism Panel

Comprehensive Congenital Hyperinsulinism Panel Any gene in the Comprehensive Congenital Hyperinsulinism Panel can also be ordered individually. Please contact us directly for cost and CPT code information. Congenital hyperinsulinism (HI) is characterized by unregulated insulin secretion from pancreatic -cells. The incidence is estimated at 1/50,000 live births, but it may be as high as 1/2,500 in countries where consanguinity is common. Untreated hypoglycemia due to hyperinsulinemia in infants can lead to seizures, developmental delay, and permanent brain injury. Mutations in several genes have been identified in familial forms of hyperinsulinism. Mutations in theABCC8andKCNJ11genes are the most common causes of congenital hyperinsulinism and account for 40 to 45% of all cases (82% of diazoxide-unresponsive patients), with other genes accounting for a much smaller percentage of cases. The genetic etiology remains unknown for 45-55% of cases. Fifty five to sixty percent of diazoxide-unresponsive HI are focal forms, whereas 40-45% are diffuse forms, in western countries. Our Comprehensive Congenital Hyperinsulinism Panel includes sequence analysis the genes ABCC8, KCNJ11, GCK, HADH, HNF1A, HNF4A, INSR, GLUD1, SLC16A1, and UCP2 and includes deletion/duplication analysis of genes ABCC8, KCNJ11, HADH, HNF1A, HNF4A, INSR,GLUD1, SLC16A1,andUCP2. Please note: Any gene in theComprehensive Congenital Hyperinsulinism Panel can also be ordered individually. Please contact us directly for cost and CPT code information. This comprehensive test is most appropriate for determining the genetic etiology of hyperinsulinism in patients who do not need results urgently for management reasons. Whenever possible, we recommend sending blood samples on both parents in addition to the patient. Continue reading >>

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